Canonical Allele Identifier: CA404099426
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3074135
ClinVar RCV Id: RCV004012677
MyVariant Identifiers: chr19:g.11240293A>G (hg19) chr19:g.11129617A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129617A>G , CM000681.2:g.11129617A>G GRCh38
NC_000019.9:g.11240293A>G , CM000681.1:g.11240293A>G GRCh37
NC_000019.8:g.11101293A>G NCBI36
NG_009060.1:g.45237A>G , LRG_274:g.45237A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2752A>G ENSP00000252444.6:p.Thr918Ala
ENST00000559340.2:c.*563A>G ENSP00000453696.2:n.*563A>G
ENST00000560467.2:c.2374A>G ENSP00000453513.2:p.Thr792Ala
ENST00000558518.6:c.2494A>G MANE Select ENSP00000454071.1:p.Thr832Ala
ENST00000252444.9:c.2748A>G
ENST00000455727.6:c.1990A>G ENSP00000397829.2:p.Thr664Ala
ENST00000535915.5:c.2371A>G ENSP00000440520.1:p.Thr791Ala
ENST00000545707.5:c.1960A>G ENSP00000437639.1:p.Thr654Ala
ENST00000557933.5:c.2556A>G ENSP00000453557.1:p.Pro852=
ENST00000558013.5:c.2494A>G ENSP00000453346.1:p.Thr832Ala
ENST00000558518.5:c.2494A>G ENSP00000454071.1:p.Thr832Ala
ENST00000560628.1:n.108+1963A>G
NM_000527.4:c.2494A>G , LRG_274t1:c.2494A>G NP_000518.1:p.Thr832Ala
NM_001195798.1:c.2494A>G NP_001182727.1:p.Thr832Ala
NM_001195799.1:c.2371A>G NP_001182728.1:p.Thr791Ala
NM_001195800.1:c.1990A>G NP_001182729.1:p.Thr664Ala
NM_001195803.1:c.1960A>G NP_001182732.1:p.Thr654Ala
XM_011528010.1:c.2416A>G XP_011526312.1:p.Thr806Ala
XM_011528011.1:c.2113A>G XP_011526313.1:p.Thr705Ala
XM_011528010.2:c.2416A>G XP_011526312.1:p.Thr806Ala
XR_001753685.2:n.2828A>G
XR_001753686.2:n.2471A>G
NM_000527.5:c.2494A>G MANE Select NP_000518.1:p.Thr832Ala
NM_001195798.2:c.2494A>G NP_001182727.1:p.Thr832Ala
NM_001195799.2:c.2371A>G NP_001182728.1:p.Thr791Ala
NM_001195800.2:c.1990A>G NP_001182729.1:p.Thr664Ala
NM_001195803.2:c.1960A>G NP_001182732.1:p.Thr654Ala
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